"It results from an excess of keratan sulphate due to a deficit in its degradation pathway. Keratan sulphate accumulates in various tissues inclusive of cartilage, the nucleus pulposus of the intervertebral discs and corneas."
"It results from an excess of keratan sulphate due to a deficit in its degradation pathway. Keratan sulphate accumulates in various tissues inclusive of cartilage, the nucleus pulposus of the intervertebral discs and corneas."
"Named after Luis Morquio, an Uruguayan paediatrician (1867-1935) published his first case in 1929 5. James Brailsford (1889-1961) 6 a renowned British radiologist made an important contribution to the understanding of the radiographic appearances of this condition, and also published his first case in 1929, independently of Morquio 8."
"anterior sternal bowing, increased AP chest diameter, wide ribs"
"Life expectancy ranges between 30-40 years. The most common cause of death is cervical myelopathy from C2 abnormality. Patients are also particularly vulnerable to respiratory infection."
Expected headings
"Plain radiograph / CT"
"Axial manifestations"
"Calvarial manifestations"
"Peripheral musculoskeletal manifestations"
"Thoracic manifestations"
"Echocardiography"
"flattened proximal femoral epiphyses; risk of lateral subluxation and dislocation"